The Rare Moments
You know those rare moments that give you goosebumps? The ones that provide a new perspective, connect two ideas in a way you’ve never considered before, or just really hit home?
For Rare Disease Day this February, you’ll find a curation of those moments here — The Rare Moments. Patients, families, researchers, and people working to advance rare disease treatments will be using this space to pass on their goosebump moments. From past moments, to the significant highlights of the 2024 Rare Disease Week and Rare Disease Day, and even hopes for the future, here you will find diverse and valuable insights that matter to our community and expand our reader’s understanding of what it means to live with and work with rare diseases.
Be sure to check back regularly throughout the month to catch the latest posts and submit your Rare Moment for consideration!
See what’s been shared
That’s a wrap for now!
This feed is no longer active or accepting submissions, but we encourage you to check out the posts below which were submitted during February 2024 in support of Rare Disease Day.
Resources
Incorporating the Patient’s Voice
White Paper
How To Build Mutually Beneficial Relationships with Advocacy Groups
Insights
How Worldwide and Every Cure Are Using AI To Unlock New Rare Disease Treatments
Insights
Meet Your Rare Disease Team
Fact Sheet
Rare Disease Day
rarediseaseday.org
Glut1 Deficiency Foundation | Research Compass
g1dfoundation.org
Workshop: Qualifying Biomarkers to Support Rare Disease Regulatory Pathways
reaganudall.org
Galactosialidosis Network
galactosialidosis.org
Every Cure
everycure.org
Uplifting Athletes
upliftingathletes.org
We live for the rare moments.
Thank you for sharing and reading this curation from our rare disease community!
In celebration of Rare Disease Day, I am excited to share our most recent draft class from the 2024 Young Investigator Draft! This year we highlighted the significant potential of research in this space when powered by the platform of sports—especially as we surpassed our $1 million in total funding granted. You can watch a recap of the event at the below link!
When my daughter was diagnosed with WAGR syndrome, none of the doctors that were treating my daughter knew anything about WAGR. Since that time, I’ve dedicated my time and energy to advocate for my daughter, spreading awareness of WAGR throughout my local and the international communities.
Wagr.orgInternational WAGR Syndrome Association
The International WAGR Syndrome Association is a not-for-profit organization comprised of an international network of families, health care professionals and researchers, and others who care for individuals with WAGR syndrome.
wagr.orgRare diseases affect hundreds of millions of people globally, presenting a massive challenge to health equity. Our team is focused on changing that sad reality for patients across many therapeutic areas. From rare cancers such as the one that took my sweet cousin Ryan last year to rare cardiovascular diseases, I’m proud of how hard our teams work every single day to improve the standard of care for rare disease patients. Their passionate and purposeful commitment to saving and improving lives is not just a job; it’s creating meaningful change for our loved ones, their caregivers, and for humanity as a whole.
With extensive commercialization expertise and deep knowledge of rare diseases, Trinity Life Sciences has supported the launches of some of the most impactful drugs and therapies globally. We remain committed to helping our clients overcome unique commercialization challenges faced by specialized treatments and strive to create a better future for those living with rare diseases.
Jim Geraghty said it best today at the 9th Annual Rare Disease Day Event at the Broad Institute. “It’s a marathon, not a sprint,” when it comes to rare disease research. Always a science-focused and inspiring event at the Broad!
The Phelan-McDermid Syndrome Foundation is excited to celebrate Rare Disease Day 2024! You can learn more about Phelan-McDermid Syndrome by reviewing our infographic and by visiting our website at pmsf.org.
PMSF.orgYesterday, 2/27, Uplifting Athletes was able to host four rare families at an Uplifting Experience with the Philadelphia Flyers. Families were provided with parking, great seats, and swag bags. Bonus the Flyers got the win!
www.linkedin.com/posts/canaryadvisorsllc_raredc2024-rarediseaseday-activity-7163517250669367297-toobCanary Advisors® on LinkedIn: #raredc2024 #rarediseaseday
For our third introduction of the week, we'd like you to meet Jim Sliney Jr, RMA, BCPA, Chief Patient Officer at Patients Rising and One Rare board member. Jimâ¦
www.linkedin.comConnecting, Collaborating, Communicating, Challenges: Sharing experiences navigating family conversations in an n-of-1 investigational treatment setting. Learn more, below!
www.n1collaborative.org/post/connecting-collaborating-communicating-challenges-sharing-experiences-navigating-family-conversaConnecting, Collaborating, Communicating, Challenges: Sharing experiences navigating family conversations in an n-of-1 investigational treatment setting
Monday, March 4, 2024 12:30 pm US ESTFrom an initial email request or conversation at a meeting… to (for some) the possibility of additional assessments… to (for a few) the potential or actual delivery of an n-of-1 treatment to an individual, researchers and clinicians are in contact with patients, families, and caretakers throughout this process. These contact points are crucial for evolving treatment development, but also present challenges on each side. For this webinar, we invite you to join
www.n1collaborative.orgWith approval of the first treatment to use gene editing to address a genetic rare disease, plus all the very recent innovations in base editing, prime editing, and lipid nanoparticle delivery, I’m hopeful we’ll see an ever-increasing number of gene editing programs in development for patient communities with genetically driven rare diseases. Kudos to the pioneers with development programs for rare cardiovascular diseases, rare blood cancers, rare hemoglobinopathies, rare bleeding disorders, rare metabolic disorders, rare neuromuscular diseases, and rare inherited retinal diseases!